FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0 1
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.100 None 0 1
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype Finding 14 3 0.100 None 0 1
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		disease Musculoskeletal Diseases Acquired Abnormality 4 5 0.100 None 0 1
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0 1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		phenotype Finding 30 17 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0 1
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0 1
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0 1
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype Finding 17 4 0.100 None 0 1
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 27 10 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0 1
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0 1